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Identification and validation of variants causing Pena Shokeir Syndrome, by using next generation sequencing and in silico bioinformatic tools
University of Skövde, School of Health Sciences.
2021 (English)Independent thesis Basic level (degree of Bachelor), 20 credits / 30 HE creditsStudent thesis
Abstract [en]

Pena Shokeir Syndrome (PSS) is a rare recessive disorder with a genetic origin. Arthrogryposis features, such as ankylosis and joint contractures, intrauterine growth restriction and pulmonary hypoplasia are characteristic symptoms of the disease. This study aimed to identify and validate the disease-causing variant in a female patient diagnosed with PSS. The clinical features of the patient included typical symptoms of PSS such as micrognathia and ankylosisof elbows, knees, hips and ankles. The principal methods used were Whole Exome Sequencing (WES) and in silico bioinformatics tools. By using QIAGEN QCI Interpret Translational, an Artificial Intelligence (AI) bioinformatic tool, the variants obtained from WES were filtered and narrowed down. Homozygosity mapping was conducted to validate the homozygosity of the candidate variants followed by segregation analysis. Homozygosity mapping and data visualisation by Integrative Genomics Viewer (IGV) confirmed the appearance of the candidate variants identified byWES analysis. The performed Gene Ontology and Conservation analysis indicated and highlighted the significance of the gene’s function. Polymerase chain reaction (PCR) and Sanger sequencing further confirmed the WES findings and that the patient was homozygous for all four deletion variants in the same gene. In conclusion, the disease-causing gene, composed of four novel variants in the same exon, was identified in the patient.  

Place, publisher, year, edition, pages
2021. , p. 28
National Category
Biomedical Laboratory Science/Technology
Identifiers
URN: urn:nbn:se:his:diva-19819OAI: oai:DiVA.org:his-19819DiVA, id: diva2:1566939
Subject / course
Biomedicine/Medical Science
Educational program
Biomedicine - Study Programme
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Available from: 2021-06-15 Created: 2021-06-15 Last updated: 2021-06-15Bibliographically approved

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